Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.34370559C>A | CA512345134 | KCNE2 | c.81C>A (p.Arg27=) | |
21 | g.34370559C>G | CA512345136 | KCNE2 | c.81C>G (p.Arg27=) | |
21 | g.34370559C>T | CA512345133 | KCNE2 | c.81C>T (p.Arg27=) | |
21 | g.34370560C>A | CA410196242 | KCNE2 | c.82C>A (p.Gln28Lys) | |
21 | g.34370560C>G | CA410196243 | KCNE2 | c.82C>G (p.Gln28Glu) | |
21 | g.34370560C>T | CA10013398 | KCNE2 | c.82C>T (p.Gln28Ter) | dbSNP ExAC gnomAD |
21 | g.34370561A>C | CA410196244 | KCNE2 | c.83A>C (p.Gln28Pro) | |
21 | g.34370561A>G | CA410196245 | KCNE2 | c.83A>G (p.Gln28Arg) | |
21 | g.34370561A>T | CA410196246 | KCNE2 | c.83A>T (p.Gln28Leu) | |
21 | g.34370562G>A | CA512345144 | KCNE2 | c.84G>A (p.Gln28=) | |
21 | g.34370562G>C | CA410196247 | KCNE2 | c.84G>C (p.Gln28His) | |
21 | g.34370562G>T | CA410196248 | KCNE2 | c.84G>T (p.Gln28His) | |
21 | g.34370563A>C | CA410196249 | KCNE2 | c.85A>C (p.Asn29His) | |
21 | g.34370563A>G | CA410196250 | KCNE2 | c.85A>G (p.Asn29Asp) | |
21 | g.34370563A>T | CA410196251 | KCNE2 | c.85A>T (p.Asn29Tyr) | |
21 | g.34370564A>C | CA410196252 | KCNE2 | c.86A>C (p.Asn29Thr) | |
21 | g.34370564A>G | CA410196253 | KCNE2 | c.86A>G (p.Asn29Ser) | |
21 | g.34370564A>T | CA410196254 | KCNE2 | c.86A>T (p.Asn29Ile) | |
21 | g.34370565C>A | CA410196256 | KCNE2 | c.87C>A (p.Asn29Lys) | |
21 | g.34370565C>G | CA410196255 | KCNE2 | c.87C>G (p.Asn29Lys) | gnomAD |
21 | g.34370565C>T | CA512345147 | KCNE2 | c.87C>T (p.Asn29=) | |
21 | g.34370566A>C | CA410196257 | KCNE2 | c.88A>C (p.Thr30Pro) | gnomAD |
21 | g.34370566A>G | CA410196258 | KCNE2 | c.88A>G (p.Thr30Ala) | |
21 | g.34370566A>T | CA410196259 | KCNE2 | c.88A>T (p.Thr30Ser) | |
21 | g.34370567C>A | CA10013399 | KCNE2 | c.89C>A (p.Thr30Lys) | dbSNP ExAC gnomAD |
21 | g.34370567C>G | CA410196260 | KCNE2 | c.89C>G (p.Thr30Arg) | |
21 | g.34370567C>T | CA320365711 | KCNE2 | c.89C>T (p.Thr30Ile) | dbSNP gnomAD |
21 | g.34370568A>C | CA512345152 | KCNE2 | c.90A>C (p.Thr30=) | |
21 | g.34370568A>G | CA512345150 | KCNE2 | c.90A>G (p.Thr30=) | |
21 | g.34370568A>T | CA512345151 | KCNE2 | c.90A>T (p.Thr30=) | |
21 | g.34370569A>C | CA410196263 | KCNE2 | c.91A>C (p.Thr31Pro) | |
21 | g.34370569A>G | CA410196261 | KCNE2 | c.91A>G (p.Thr31Ala) | |
21 | g.34370569A>T | CA410196262 | KCNE2 | c.91A>T (p.Thr31Ser) | |
21 | g.34370570C>A | CA410196264 | KCNE2 | c.92C>A (p.Thr31Lys) | |
21 | g.34370570C>G | CA10013400 | KCNE2 | c.92C>G (p.Thr31Arg) | dbSNP ExAC gnomAD |
21 | g.34370570C>T | CA320365712 | KCNE2 | c.92C>T (p.Thr31Ile) | dbSNP gnomAD |
21 | g.34370571A>C | CA512345157 | KCNE2 | c.93A>C (p.Thr31=) | |
21 | g.34370571A>G | CA512345155 | KCNE2 | c.93A>G (p.Thr31=) | |
21 | g.34370571A>T | CA512345156 | KCNE2 | c.93A>T (p.Thr31=) | |
21 | g.34370572G>A | CA410196265 | KCNE2 | c.94G>A (p.Ala32Thr) | |
21 | g.34370572G>C | CA410196266 | KCNE2 | c.94G>C (p.Ala32Pro) | |
21 | g.34370572G>T | CA410196267 | KCNE2 | c.94G>T (p.Ala32Ser) | |
21 | g.34370573C>A | CA410196268 | KCNE2 | c.95C>A (p.Ala32Asp) | |
21 | g.34370573C>G | CA410196269 | KCNE2 | c.95C>G (p.Ala32Gly) | |
21 | g.34370573C>T | CA410196270 | KCNE2 | c.95C>T (p.Ala32Val) | |
21 | g.34370574T>A | CA512345163 | KCNE2 | c.96T>A (p.Ala32=) | |
21 | g.34370574T>C | CA512345161 | KCNE2 | c.96T>C (p.Ala32=) | |
21 | g.34370574T>G | CA512345162 | KCNE2 | c.96T>G (p.Ala32=) | |
21 | g.34370575G>A | CA410196271 | KCNE2 | c.97G>A (p.Glu33Lys) | ClinVar |
21 | g.34370575G>C | CA410196272 | KCNE2 | c.97G>C (p.Glu33Gln) |